Incidental Mutation 'R0972:Blm'
| ID |
82870 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Blm
|
| Ensembl Gene |
ENSMUSG00000030528 |
| Gene Name |
Bloom syndrome, RecQ like helicase |
| Synonyms |
|
| MMRRC Submission |
039101-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0972 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
80104741-80184896 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 80163118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 78
(S78T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127995
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081314]
[ENSMUST00000170315]
|
| AlphaFold |
O88700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081314
AA Change: S75T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: S75T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
118 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
169 |
N/A |
INTRINSIC |
|
low complexity region
|
219 |
231 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
Pfam:BDHCT
|
376 |
416 |
5.5e-27 |
PFAM |
|
low complexity region
|
557 |
574 |
N/A |
INTRINSIC |
|
DEXDc
|
672 |
873 |
1.59e-29 |
SMART |
|
HELICc
|
910 |
992 |
1.29e-24 |
SMART |
|
RQC
|
1084 |
1198 |
1.43e-15 |
SMART |
|
HRDC
|
1217 |
1297 |
9.4e-20 |
SMART |
|
low complexity region
|
1357 |
1371 |
N/A |
INTRINSIC |
|
low complexity region
|
1378 |
1392 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170315
AA Change: S78T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: S78T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:BLM_N
|
4 |
375 |
1.1e-161 |
PFAM |
|
Pfam:BDHCT
|
380 |
419 |
6.4e-25 |
PFAM |
|
Pfam:BDHCT_assoc
|
433 |
658 |
8.8e-108 |
PFAM |
|
DEXDc
|
675 |
876 |
1.59e-29 |
SMART |
|
HELICc
|
913 |
995 |
1.29e-24 |
SMART |
|
Pfam:RecQ_Zn_bind
|
1006 |
1078 |
1.5e-19 |
PFAM |
|
RQC
|
1087 |
1201 |
1.43e-15 |
SMART |
|
HRDC
|
1220 |
1300 |
9.4e-20 |
SMART |
|
low complexity region
|
1360 |
1374 |
N/A |
INTRINSIC |
|
low complexity region
|
1381 |
1395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000205263
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 97.8%
- 20x: 96.3%
|
| Validation Efficiency |
97% (72/74) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
G |
A |
8: 41,208,168 (GRCm39) |
R478Q |
probably damaging |
Het |
| Adgrf5 |
A |
T |
17: 43,761,874 (GRCm39) |
S1190C |
probably damaging |
Het |
| Akr1a1 |
T |
C |
4: 116,497,204 (GRCm39) |
|
probably null |
Het |
| Bco2 |
A |
T |
9: 50,447,615 (GRCm39) |
D369E |
probably benign |
Het |
| Brsk2 |
C |
G |
7: 141,547,441 (GRCm39) |
|
probably benign |
Het |
| Cct8 |
A |
G |
16: 87,283,508 (GRCm39) |
V269A |
possibly damaging |
Het |
| Cdh12 |
A |
T |
15: 21,237,850 (GRCm39) |
Q28H |
probably benign |
Het |
| Cep290 |
A |
G |
10: 100,354,624 (GRCm39) |
T896A |
probably benign |
Het |
| Chrm2 |
T |
A |
6: 36,501,401 (GRCm39) |
N419K |
possibly damaging |
Het |
| Clasp2 |
A |
T |
9: 113,676,773 (GRCm39) |
H168L |
possibly damaging |
Het |
| Cog3 |
A |
T |
14: 75,954,610 (GRCm39) |
M643K |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,817,484 (GRCm39) |
S276P |
unknown |
Het |
| Colgalt2 |
T |
C |
1: 152,347,495 (GRCm39) |
V143A |
probably damaging |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Cwc27 |
C |
A |
13: 104,797,865 (GRCm39) |
E365* |
probably null |
Het |
| Ddx56 |
A |
T |
11: 6,217,718 (GRCm39) |
M1K |
probably null |
Het |
| Dnah3 |
C |
T |
7: 119,634,563 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
T |
C |
6: 73,136,176 (GRCm39) |
T988A |
possibly damaging |
Het |
| Esp15 |
T |
A |
17: 39,953,557 (GRCm39) |
F15I |
possibly damaging |
Het |
| Fam237b |
T |
A |
5: 5,625,512 (GRCm39) |
D69E |
probably benign |
Het |
| Fbh1 |
C |
T |
2: 11,768,899 (GRCm39) |
|
probably benign |
Het |
| Gucy1b2 |
A |
T |
14: 62,646,127 (GRCm39) |
I572N |
possibly damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,651,818 (GRCm39) |
I393V |
possibly damaging |
Het |
| H1f6 |
G |
T |
13: 23,880,307 (GRCm39) |
K153N |
possibly damaging |
Het |
| Herc1 |
C |
A |
9: 66,279,427 (GRCm39) |
R112S |
probably damaging |
Het |
| Itga7 |
G |
A |
10: 128,778,746 (GRCm39) |
R291H |
probably damaging |
Het |
| Jag1 |
A |
G |
2: 136,925,371 (GRCm39) |
L1077S |
possibly damaging |
Het |
| Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
| Klrc2 |
T |
C |
6: 129,635,726 (GRCm39) |
Y134C |
probably damaging |
Het |
| Map2k2 |
C |
A |
10: 80,955,482 (GRCm39) |
D67E |
probably benign |
Het |
| Mest |
G |
A |
6: 30,740,683 (GRCm39) |
W14* |
probably null |
Het |
| Mier2 |
A |
G |
10: 79,380,455 (GRCm39) |
|
probably benign |
Het |
| Mog |
A |
G |
17: 37,328,424 (GRCm39) |
V169A |
probably benign |
Het |
| Mov10l1 |
T |
C |
15: 88,905,482 (GRCm39) |
V879A |
probably damaging |
Het |
| Mrgpra9 |
A |
G |
7: 46,885,203 (GRCm39) |
S155P |
probably damaging |
Het |
| Mtmr10 |
A |
G |
7: 63,976,457 (GRCm39) |
D418G |
probably damaging |
Het |
| Mtpn |
T |
C |
6: 35,498,911 (GRCm39) |
D58G |
probably null |
Het |
| Myh8 |
A |
G |
11: 67,188,585 (GRCm39) |
R1056G |
probably damaging |
Het |
| Nek1 |
T |
A |
8: 61,542,465 (GRCm39) |
|
probably null |
Het |
| Or4k38 |
T |
C |
2: 111,165,763 (GRCm39) |
Y220C |
probably benign |
Het |
| Or5al7 |
A |
C |
2: 85,992,648 (GRCm39) |
L215R |
possibly damaging |
Het |
| Or8b36 |
T |
A |
9: 37,937,856 (GRCm39) |
F251L |
possibly damaging |
Het |
| Pcnx1 |
G |
A |
12: 81,960,186 (GRCm39) |
D181N |
probably damaging |
Het |
| Pdzrn4 |
A |
G |
15: 92,655,592 (GRCm39) |
D495G |
probably benign |
Het |
| Plppr3 |
A |
G |
10: 79,700,920 (GRCm39) |
S641P |
probably damaging |
Het |
| Pramel11 |
T |
A |
4: 143,623,533 (GRCm39) |
T214S |
probably benign |
Het |
| Prelp |
A |
T |
1: 133,842,414 (GRCm39) |
Y244N |
probably damaging |
Het |
| Prg2 |
C |
A |
2: 84,812,393 (GRCm39) |
N34K |
probably benign |
Het |
| Ptp4a1 |
A |
G |
1: 30,984,080 (GRCm39) |
V46A |
possibly damaging |
Het |
| Rpl6 |
A |
G |
5: 121,346,565 (GRCm39) |
D222G |
possibly damaging |
Het |
| Rtp1 |
A |
T |
16: 23,250,058 (GRCm39) |
D141V |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,449,412 (GRCm39) |
Y3819* |
probably null |
Het |
| Serinc5 |
A |
G |
13: 92,825,128 (GRCm39) |
T186A |
probably benign |
Het |
| Slc15a2 |
A |
G |
16: 36,577,501 (GRCm39) |
S422P |
probably benign |
Het |
| Slc2a8 |
A |
T |
2: 32,865,379 (GRCm39) |
V366D |
probably benign |
Het |
| Smarca1 |
T |
C |
X: 46,938,864 (GRCm39) |
R715G |
possibly damaging |
Het |
| Spdef |
C |
T |
17: 27,933,997 (GRCm39) |
A275T |
probably damaging |
Het |
| Tcf21 |
T |
C |
10: 22,695,621 (GRCm39) |
K61R |
probably benign |
Het |
| Tep1 |
A |
G |
14: 51,061,753 (GRCm39) |
|
probably benign |
Het |
| Thada |
G |
A |
17: 84,736,490 (GRCm39) |
|
probably benign |
Het |
| Thap11 |
T |
A |
8: 106,582,810 (GRCm39) |
I273N |
probably damaging |
Het |
| Tmem129 |
T |
A |
5: 33,812,112 (GRCm39) |
E262V |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,904,117 (GRCm39) |
Y1086C |
probably damaging |
Het |
| Togaram2 |
A |
G |
17: 72,014,309 (GRCm39) |
Y619C |
probably damaging |
Het |
| Top1 |
C |
T |
2: 160,562,945 (GRCm39) |
A717V |
probably damaging |
Het |
| Trpm7 |
G |
A |
2: 126,646,969 (GRCm39) |
P1507S |
probably benign |
Het |
| Ubr2 |
A |
T |
17: 47,245,187 (GRCm39) |
|
probably null |
Het |
| Usp30 |
T |
C |
5: 114,249,925 (GRCm39) |
|
probably benign |
Het |
| Vmn1r3 |
T |
A |
4: 3,185,125 (GRCm39) |
I61F |
probably damaging |
Het |
| Zbtb22 |
C |
T |
17: 34,136,326 (GRCm39) |
T157I |
possibly damaging |
Het |
| Zfp677 |
A |
T |
17: 21,618,572 (GRCm39) |
H543L |
probably damaging |
Het |
| Zranb3 |
G |
T |
1: 127,884,383 (GRCm39) |
P1001Q |
probably damaging |
Het |
|
| Other mutations in Blm |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01531:Blm
|
APN |
7 |
80,123,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01658:Blm
|
APN |
7 |
80,113,689 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02048:Blm
|
APN |
7 |
80,152,709 (GRCm39) |
splice site |
probably benign |
|
|
IGL02060:Blm
|
APN |
7 |
80,164,328 (GRCm39) |
splice site |
probably benign |
|
|
IGL02063:Blm
|
APN |
7 |
80,159,167 (GRCm39) |
nonsense |
probably null |
|
|
IGL02102:Blm
|
APN |
7 |
80,119,504 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02420:Blm
|
APN |
7 |
80,145,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Blm
|
APN |
7 |
80,153,125 (GRCm39) |
splice site |
probably null |
|
|
IGL02566:Blm
|
APN |
7 |
80,123,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03387:Blm
|
APN |
7 |
80,143,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
FR4304:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
|
FR4304:Blm
|
UTSW |
7 |
80,113,521 (GRCm39) |
frame shift |
probably null |
|
|
FR4340:Blm
|
UTSW |
7 |
80,162,658 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
|
FR4340:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
|
FR4449:Blm
|
UTSW |
7 |
80,162,656 (GRCm39) |
small insertion |
probably benign |
|
|
FR4548:Blm
|
UTSW |
7 |
80,113,517 (GRCm39) |
frame shift |
probably null |
|
|
FR4589:Blm
|
UTSW |
7 |
80,113,518 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Blm
|
UTSW |
7 |
80,113,522 (GRCm39) |
frame shift |
probably null |
|
|
FR4737:Blm
|
UTSW |
7 |
80,113,519 (GRCm39) |
frame shift |
probably null |
|
|
FR4976:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
|
FR4976:Blm
|
UTSW |
7 |
80,113,515 (GRCm39) |
unclassified |
probably benign |
|
|
R0133:Blm
|
UTSW |
7 |
80,152,115 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0194:Blm
|
UTSW |
7 |
80,114,694 (GRCm39) |
unclassified |
probably benign |
|
|
R0526:Blm
|
UTSW |
7 |
80,155,641 (GRCm39) |
nonsense |
probably null |
|
|
R0673:Blm
|
UTSW |
7 |
80,149,499 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0980:Blm
|
UTSW |
7 |
80,149,706 (GRCm39) |
splice site |
probably null |
|
|
R1120:Blm
|
UTSW |
7 |
80,131,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1301:Blm
|
UTSW |
7 |
80,105,165 (GRCm39) |
nonsense |
probably null |
|
|
R1769:Blm
|
UTSW |
7 |
80,163,118 (GRCm39) |
missense |
probably benign |
|
|
R1866:Blm
|
UTSW |
7 |
80,143,862 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1874:Blm
|
UTSW |
7 |
80,147,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1966:Blm
|
UTSW |
7 |
80,162,934 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1991:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
|
R2013:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2014:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2015:Blm
|
UTSW |
7 |
80,152,147 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2016:Blm
|
UTSW |
7 |
80,155,674 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2103:Blm
|
UTSW |
7 |
80,155,697 (GRCm39) |
splice site |
probably null |
|
|
R2161:Blm
|
UTSW |
7 |
80,131,118 (GRCm39) |
splice site |
probably null |
|
|
R2215:Blm
|
UTSW |
7 |
80,149,595 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3689:Blm
|
UTSW |
7 |
80,162,827 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4049:Blm
|
UTSW |
7 |
80,152,610 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4155:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
|
R4695:Blm
|
UTSW |
7 |
80,143,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4774:Blm
|
UTSW |
7 |
80,113,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Blm
|
UTSW |
7 |
80,116,574 (GRCm39) |
missense |
probably benign |
|
|
R4835:Blm
|
UTSW |
7 |
80,159,294 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4994:Blm
|
UTSW |
7 |
80,108,573 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5039:Blm
|
UTSW |
7 |
80,155,621 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5330:Blm
|
UTSW |
7 |
80,108,684 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5375:Blm
|
UTSW |
7 |
80,162,977 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5408:Blm
|
UTSW |
7 |
80,152,370 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5574:Blm
|
UTSW |
7 |
80,149,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5606:Blm
|
UTSW |
7 |
80,110,580 (GRCm39) |
splice site |
probably null |
|
|
R5702:Blm
|
UTSW |
7 |
80,108,675 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5809:Blm
|
UTSW |
7 |
80,114,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6114:Blm
|
UTSW |
7 |
80,163,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6157:Blm
|
UTSW |
7 |
80,162,733 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6163:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
|
R6254:Blm
|
UTSW |
7 |
80,130,090 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6266:Blm
|
UTSW |
7 |
80,149,688 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6364:Blm
|
UTSW |
7 |
80,144,274 (GRCm39) |
nonsense |
probably null |
|
|
R6446:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
|
R6502:Blm
|
UTSW |
7 |
80,131,223 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6700:Blm
|
UTSW |
7 |
80,113,598 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7002:Blm
|
UTSW |
7 |
80,119,501 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7105:Blm
|
UTSW |
7 |
80,149,516 (GRCm39) |
missense |
probably benign |
0.44 |
|
R7320:Blm
|
UTSW |
7 |
80,105,102 (GRCm39) |
nonsense |
probably null |
|
|
R7465:Blm
|
UTSW |
7 |
80,162,863 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7561:Blm
|
UTSW |
7 |
80,152,276 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8500:Blm
|
UTSW |
7 |
80,105,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8543:Blm
|
UTSW |
7 |
80,143,964 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,655 (GRCm39) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,666 (GRCm39) |
small insertion |
probably benign |
|
|
R8774-TAIL:Blm
|
UTSW |
7 |
80,162,667 (GRCm39) |
small insertion |
probably benign |
|
|
R8775-TAIL:Blm
|
UTSW |
7 |
80,162,679 (GRCm39) |
small insertion |
probably benign |
|
|
R8860:Blm
|
UTSW |
7 |
80,144,276 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8928:Blm
|
UTSW |
7 |
80,162,652 (GRCm39) |
small deletion |
probably benign |
|
|
R9089:Blm
|
UTSW |
7 |
80,162,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9363:Blm
|
UTSW |
7 |
80,108,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF001:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
|
RF001:Blm
|
UTSW |
7 |
80,162,651 (GRCm39) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,162,675 (GRCm39) |
small insertion |
probably benign |
|
|
RF002:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
small insertion |
probably benign |
|
|
RF007:Blm
|
UTSW |
7 |
80,162,681 (GRCm39) |
nonsense |
probably null |
|
|
RF016:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
|
RF018:Blm
|
UTSW |
7 |
80,162,674 (GRCm39) |
nonsense |
probably null |
|
|
RF027:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
frame shift |
probably null |
|
|
RF028:Blm
|
UTSW |
7 |
80,162,653 (GRCm39) |
nonsense |
probably null |
|
|
RF031:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
small insertion |
probably benign |
|
|
RF031:Blm
|
UTSW |
7 |
80,162,654 (GRCm39) |
small insertion |
probably benign |
|
|
RF032:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
|
RF036:Blm
|
UTSW |
7 |
80,162,662 (GRCm39) |
nonsense |
probably null |
|
|
RF044:Blm
|
UTSW |
7 |
80,162,678 (GRCm39) |
small insertion |
probably benign |
|
|
RF053:Blm
|
UTSW |
7 |
80,162,669 (GRCm39) |
small insertion |
probably benign |
|
|
RF064:Blm
|
UTSW |
7 |
80,162,671 (GRCm39) |
nonsense |
probably null |
|
|
X0061:Blm
|
UTSW |
7 |
80,108,598 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACAGCCACGGGCAGTTTCTTC -3'
(R):5'- TCTCAGTGCCCAGTAACTAGCCTC -3'
Sequencing Primer
(F):5'- GGCAGTTTCTTCGCAGTG -3'
(R):5'- tcagtcctcagcatcagaaac -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation